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Protein

Ceramide kinase-like protein

Gene

CERKL

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Has no detectable ceramide-kinase activity. Overexpression of CERKL protects cells from apoptosis in oxidative stress conditions.2 Publications

GO - Molecular functioni

GO - Biological processi

  • negative regulation of apoptotic process Source: UniProtKB
Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
Ceramide kinase-like protein
Gene namesi
Name:CERKL
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640 Componenti: Chromosome 2

Organism-specific databases

HGNCiHGNC:21699. CERKL.

Subcellular locationi

  • Cytoplasm
  • Nucleusnucleolus

  • Note: Enriched in nucleoli. May shuttle between nucleus and cytoplasm. Isoform 5 is not enriched in the nucleoli.

GO - Cellular componenti

  • cytoplasm Source: UniProtKB
  • endoplasmic reticulum Source: UniProtKB
  • Golgi apparatus Source: UniProtKB
  • nucleolus Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Endoplasmic reticulum, Golgi apparatus, Nucleus

Pathology & Biotechi

Involvement in diseasei

Retinitis pigmentosa 26 (RP26)2 Publications

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.

See also OMIM:608380
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti106 – 1061R → S in RP26. 1 Publication
VAR_065182

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi104 – 1063KRR → GGG: Only cytoplasmic. 1 Publication
Mutagenesisi260 – 2601G → D: Loss of nuclear localization; in isoform 2. 1 Publication

Keywords - Diseasei

Disease mutation, Retinitis pigmentosa

Organism-specific databases

MIMi608380. phenotype.
Orphaneti791. Retinitis pigmentosa.
PharmGKBiPA134984780.

Polymorphism and mutation databases

BioMutaiCERKL.
DMDMi84028814.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 558558Ceramide kinase-like proteinPRO_0000181356Add
BLAST

Post-translational modificationi

Phosphorylated on serine residues.1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

PaxDbiQ49MI3.
PRIDEiQ49MI3.

PTM databases

PhosphoSiteiQ49MI3.

Expressioni

Tissue specificityi

Isoform 1 and isoform 2 are expressed in adult retina, liver and pancreas as well as in fetal brain, lung and kidney. Isoform 3 is expressed in adult retina as well as in fetal lung and liver. Isoform 4 is expressed in adult retina, lung and kidney as well as in fetal lung and liver. Moderately expressed in retina, kidney, lung, testis, trachea, and pancreas. Weakly expressed in brain, placenta and liver.3 Publications

Developmental stagei

Expressed in fetal lung, kidney and brain.1 Publication

Gene expression databases

BgeeiQ49MI3.
GenevisibleiQ49MI3. HS.

Organism-specific databases

HPAiHPA035444.

Interactioni

Protein-protein interaction databases

BioGridi131968. 8 interactions.
STRINGi9606.ENSP00000341159.

Structurei

3D structure databases

ProteinModelPortaliQ49MI3.
SMRiQ49MI3. Positions 160-550.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini164 – 339176DAGKcPROSITE-ProRule annotationAdd
BLAST

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi2 – 98Nuclear localization signal 1Sequence Analysis
Motifi102 – 1065Nuclear localization signal 2

Sequence similaritiesi

Contains 1 DAGKc domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiNOG296399.
GeneTreeiENSGT00690000101761.
HOGENOMiHOG000231784.
HOVERGENiHBG102265.
InParanoidiQ49MI3.
OMAiCLKKEQN.
OrthoDBiEOG78D7JT.
PhylomeDBiQ49MI3.
TreeFamiTF314514.

Family and domain databases

InterProiIPR001206. Diacylglycerol_kinase_cat_dom.
IPR016064. NAD/diacylglycerol_kinase.
[Graphical view]
PfamiPF00781. DAGK_cat. 1 hit.
[Graphical view]
SUPFAMiSSF111331. SSF111331. 2 hits.
PROSITEiPS50146. DAGK. 1 hit.
[Graphical view]

Sequences (8)i

Sequence statusi: Complete.

This entry describes 8 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q49MI3-1) [UniParc]FASTAAdd to basket

Also known as: b

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MPWRRRRNRV SALEGGREEE APPEAAAVPP ALLTSPQQTE AAAERILLRG
60 70 80 90 100
IFEIGRDSCD VVLSERALRW RPIQPERPAG DSKYDLLCKE EFIELKDIFS
110 120 130 140 150
VKLKRRCSVK QQRSGTLLGI TLFICLKKEQ NKLKNSTLDL INLSEDHCDI
160 170 180 190 200
WFRQFKKILA GFPNRPKSLK ILLNPQSHKK EATQVYYEKV EPLLKLAGIK
210 220 230 240 250
TDVTIMEYEG HALSLLKECE LQGFDGGHRK PLFAIHWSVQ RLFTGMQTLE
260 270 280 290 300
PSVVCVGGDG SASEVAHALL LRAQKNAGME TDRILTPVRA QLPLGLIPAG
310 320 330 340 350
STNVLAHSLH GVPHVITATL HIIMGHVQLV DVCTFSTAGK LLRFGFSAMF
360 370 380 390 400
GFGGRTLALA EKYRWMSPNQ RRDFAVVKAL AKLKAEDCEI SFLPFNSSDD
410 420 430 440 450
VQERRAQGSP KSDCNDQWQM IQGQFLNVSI MAIPCLCSVA PRGLAPNTRL
460 470 480 490 500
NNGSMALIIA RNTSRPEFIK HLKRYASVKN QFNFPFVETY TVEEVKVHPR
510 520 530 540 550
NNTGGYNPEE EEDETASENC FPWNVDGDLM EVASEVHIRL HPRLISLYGG

SMEEMIPK
Length:558
Mass (Da):62,622
Last modified:September 13, 2005 - v1
Checksum:i305B6BB82CE977CB
GO
Isoform 2 (identifier: Q49MI3-2) [UniParc]FASTAAdd to basket

Also known as: a

The sequence of this isoform differs from the canonical sequence as follows:
     227-252: Missing.

Show »
Length:532
Mass (Da):59,603
Checksum:iC73E590F7C25EED1
GO
Isoform 3 (identifier: Q49MI3-3) [UniParc]FASTAAdd to basket

Also known as: d

The sequence of this isoform differs from the canonical sequence as follows:
     205-300: IMEYEGHALS...QLPLGLIPAG → R

Show »
Length:463
Mass (Da):52,445
Checksum:i36F0E7DC8396890A
GO
Isoform 4 (identifier: Q49MI3-4) [UniParc]FASTAAdd to basket

Also known as: c

The sequence of this isoform differs from the canonical sequence as follows:
     160-298: Missing.

Show »
Length:419
Mass (Da):47,370
Checksum:i26CAF6FA94820DF0
GO
Isoform 5 (identifier: Q49MI3-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     227-252: Missing.
     405-558: Missing.

Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
Show »
Length:378
Mass (Da):42,209
Checksum:i2372D50CA3BA00EA
GO
Isoform 7 (identifier: Q49MI3-7) [UniParc]FASTAAdd to basket

Also known as: f

The sequence of this isoform differs from the canonical sequence as follows:
     205-217: IMEYEGHALSLLK → MLSVLVEMDLLAK
     218-558: Missing.

Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
Show »
Length:217
Mass (Da):24,836
Checksum:iCA3A37FC7F29CF7A
GO
Isoform 8 (identifier: Q49MI3-8) [UniParc]FASTAAdd to basket

Also known as: e

The sequence of this isoform differs from the canonical sequence as follows:
     161-173: GFPNRPKSLKILL → VLSVLVEMDLLAK
     174-558: Missing.

Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
Show »
Length:173
Mass (Da):19,828
Checksum:i184DD8A7AF71BF41
GO
Isoform 9 (identifier: Q49MI3-9) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     161-205: GFPNRPKSLKILLNPQSHKKEATQVYYEKVEPLLKLAGIKTDVTI → V

Show »
Length:514
Mass (Da):57,632
Checksum:i012117C9A56696B1
GO

Sequence cautioni

The sequence BAC85266.1 differs from that shown. Reason: Erroneous translation. Wrong choice of CDS.Curated
The sequence CAG26980.1 differs from that shown. Reason: Frameshift at several positions. Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti129 – 1291E → D in CAG26980 (PubMed:15708351).Curated
Sequence conflicti178 – 1781H → R in CAG26978 (PubMed:15708351).Curated
Sequence conflicti210 – 2101G → E in CAG26977 (PubMed:15708351).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti106 – 1061R → S in RP26. 1 Publication
VAR_065182
Natural varianti232 – 2321L → F.
Corresponds to variant rs10185262 [ dbSNP | Ensembl ].
VAR_053688
Natural varianti514 – 5141E → G.
Corresponds to variant rs35955809 [ dbSNP | Ensembl ].
VAR_053689

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei160 – 298139Missing in isoform 4. 1 PublicationVSP_016653Add
BLAST
Alternative sequencei161 – 20545GFPNR…TDVTI → V in isoform 9. 1 PublicationVSP_042663Add
BLAST
Alternative sequencei161 – 17313GFPNR…LKILL → VLSVLVEMDLLAK in isoform 8. 2 PublicationsVSP_016654Add
BLAST
Alternative sequencei174 – 558385Missing in isoform 8. 2 PublicationsVSP_016655Add
BLAST
Alternative sequencei205 – 30096IMEYE…LIPAG → R in isoform 3. 1 PublicationVSP_016656Add
BLAST
Alternative sequencei205 – 21713IMEYE…LSLLK → MLSVLVEMDLLAK in isoform 7. 3 PublicationsVSP_016657Add
BLAST
Alternative sequencei218 – 558341Missing in isoform 7. 3 PublicationsVSP_016658Add
BLAST
Alternative sequencei227 – 25226Missing in isoform 2 and isoform 5. 3 PublicationsVSP_016659Add
BLAST
Alternative sequencei405 – 558154Missing in isoform 5. 1 PublicationVSP_016660Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY357073 mRNA. Translation: AAR13670.1.
AY690329 mRNA. Translation: AAW47988.1.
AY690330 mRNA. Translation: AAW47989.1.
AY690331 mRNA. Translation: AAW47990.1.
AY690332 mRNA. Translation: AAW47991.1.
AY690333 mRNA. Translation: AAW47992.1.
AJ640141 mRNA. Translation: CAG26695.1.
AJ697855 mRNA. Translation: CAG26977.1.
AJ697856 mRNA. Translation: CAG26978.1.
AJ697858 mRNA. Translation: CAG26980.1. Frameshift.
AK129976 mRNA. Translation: BAC85266.1. Sequence problems.
AK293844 mRNA. Translation: BAG57242.1.
AC013733 Genomic DNA. No translation available.
AC020595 Genomic DNA. No translation available.
BC137498 mRNA. Translation: AAI37499.1.
BC137499 mRNA. Translation: AAI37500.1.
CCDSiCCDS33340.1. [Q49MI3-4]
CCDS33341.1. [Q49MI3-3]
CCDS42789.1. [Q49MI3-1]
CCDS46466.1. [Q49MI3-2]
CCDS54425.1. [Q49MI3-9]
RefSeqiNP_001025482.1. NM_001030311.2. [Q49MI3-1]
NP_001025483.1. NM_001030312.2. [Q49MI3-4]
NP_001025484.1. NM_001030313.2. [Q49MI3-3]
NP_001153749.1. NM_001160277.1. [Q49MI3-9]
NP_963842.1. NM_201548.4. [Q49MI3-2]
UniGeneiHs.732358.

Genome annotation databases

EnsembliENST00000339098; ENSP00000341159; ENSG00000188452.
ENST00000374967; ENSP00000364106; ENSG00000188452. [Q49MI3-7]
ENST00000374969; ENSP00000364108; ENSG00000188452. [Q49MI3-4]
ENST00000374970; ENSP00000364109; ENSG00000188452. [Q49MI3-3]
ENST00000409440; ENSP00000387080; ENSG00000188452. [Q49MI3-9]
ENST00000410087; ENSP00000386725; ENSG00000188452. [Q49MI3-2]
ENST00000421817; ENSP00000411466; ENSG00000188452. [Q49MI3-8]
ENST00000452174; ENSP00000409198; ENSG00000188452. [Q49MI3-8]
GeneIDi375298.
KEGGihsa:375298.
UCSCiuc002unx.3. human. [Q49MI3-1]
uc002uny.3. human. [Q49MI3-2]
uc002uoa.3. human. [Q49MI3-3]
uc002uoc.3. human. [Q49MI3-4]
uc002uoe.3. human. [Q49MI3-5]
uc010zfm.2. human. [Q49MI3-9]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY357073 mRNA. Translation: AAR13670.1.
AY690329 mRNA. Translation: AAW47988.1.
AY690330 mRNA. Translation: AAW47989.1.
AY690331 mRNA. Translation: AAW47990.1.
AY690332 mRNA. Translation: AAW47991.1.
AY690333 mRNA. Translation: AAW47992.1.
AJ640141 mRNA. Translation: CAG26695.1.
AJ697855 mRNA. Translation: CAG26977.1.
AJ697856 mRNA. Translation: CAG26978.1.
AJ697858 mRNA. Translation: CAG26980.1. Frameshift.
AK129976 mRNA. Translation: BAC85266.1. Sequence problems.
AK293844 mRNA. Translation: BAG57242.1.
AC013733 Genomic DNA. No translation available.
AC020595 Genomic DNA. No translation available.
BC137498 mRNA. Translation: AAI37499.1.
BC137499 mRNA. Translation: AAI37500.1.
CCDSiCCDS33340.1. [Q49MI3-4]
CCDS33341.1. [Q49MI3-3]
CCDS42789.1. [Q49MI3-1]
CCDS46466.1. [Q49MI3-2]
CCDS54425.1. [Q49MI3-9]
RefSeqiNP_001025482.1. NM_001030311.2. [Q49MI3-1]
NP_001025483.1. NM_001030312.2. [Q49MI3-4]
NP_001025484.1. NM_001030313.2. [Q49MI3-3]
NP_001153749.1. NM_001160277.1. [Q49MI3-9]
NP_963842.1. NM_201548.4. [Q49MI3-2]
UniGeneiHs.732358.

3D structure databases

ProteinModelPortaliQ49MI3.
SMRiQ49MI3. Positions 160-550.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi131968. 8 interactions.
STRINGi9606.ENSP00000341159.

PTM databases

PhosphoSiteiQ49MI3.

Polymorphism and mutation databases

BioMutaiCERKL.
DMDMi84028814.

Proteomic databases

PaxDbiQ49MI3.
PRIDEiQ49MI3.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000339098; ENSP00000341159; ENSG00000188452.
ENST00000374967; ENSP00000364106; ENSG00000188452. [Q49MI3-7]
ENST00000374969; ENSP00000364108; ENSG00000188452. [Q49MI3-4]
ENST00000374970; ENSP00000364109; ENSG00000188452. [Q49MI3-3]
ENST00000409440; ENSP00000387080; ENSG00000188452. [Q49MI3-9]
ENST00000410087; ENSP00000386725; ENSG00000188452. [Q49MI3-2]
ENST00000421817; ENSP00000411466; ENSG00000188452. [Q49MI3-8]
ENST00000452174; ENSP00000409198; ENSG00000188452. [Q49MI3-8]
GeneIDi375298.
KEGGihsa:375298.
UCSCiuc002unx.3. human. [Q49MI3-1]
uc002uny.3. human. [Q49MI3-2]
uc002uoa.3. human. [Q49MI3-3]
uc002uoc.3. human. [Q49MI3-4]
uc002uoe.3. human. [Q49MI3-5]
uc010zfm.2. human. [Q49MI3-9]

Organism-specific databases

CTDi375298.
GeneCardsiGC02M182401.
GeneReviewsiCERKL.
HGNCiHGNC:21699. CERKL.
HPAiHPA035444.
MIMi608380. phenotype.
608381. gene.
neXtProtiNX_Q49MI3.
Orphaneti791. Retinitis pigmentosa.
PharmGKBiPA134984780.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG296399.
GeneTreeiENSGT00690000101761.
HOGENOMiHOG000231784.
HOVERGENiHBG102265.
InParanoidiQ49MI3.
OMAiCLKKEQN.
OrthoDBiEOG78D7JT.
PhylomeDBiQ49MI3.
TreeFamiTF314514.

Miscellaneous databases

ChiTaRSiCERKL. human.
GenomeRNAii375298.
NextBioi100456.
PROiQ49MI3.
SOURCEiSearch...

Gene expression databases

BgeeiQ49MI3.
GenevisibleiQ49MI3. HS.

Family and domain databases

InterProiIPR001206. Diacylglycerol_kinase_cat_dom.
IPR016064. NAD/diacylglycerol_kinase.
[Graphical view]
PfamiPF00781. DAGK_cat. 1 hit.
[Graphical view]
SUPFAMiSSF111331. SSF111331. 2 hits.
PROSITEiPS50146. DAGK. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Mutation of CERKL, a novel human ceramide kinase gene, causes autosomal recessive retinitis pigmentosa (RP26)."
    Tuson M., Marfany G., Gonzalez-Duarte R.
    Am. J. Hum. Genet. 74:128-138(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2; 3; 4; 7 AND 8), INVOLVEMENT IN RP26, TISSUE SPECIFICITY, DEVELOPMENTAL STAGE.
    Tissue: Retina.
  2. Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 2; 5; 7 AND 8), FUNCTION, TISSUE SPECIFICITY, PHOSPHORYLATION, SUBCELLULAR LOCATION, MUTAGENESIS OF GLY-260.
    Tissue: Brain.
  3. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 9), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 199-558 (ISOFORM 7).
    Tissue: Kidney.
  4. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
    Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
    , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
    Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    Tissue: Brain.
  6. "Subcellular localization of ceramide kinase and ceramide kinase-like protein requires interplay of their Pleckstrin Homology domain-containing N-terminal regions together with C-terminal domains."
    Rovina P., Schanzer A., Graf C., Mechtcheriakova D., Jaritz M., Bornancin F.
    Biochim. Biophys. Acta 1791:1023-1030(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: SUBCELLULAR LOCATION, MUTAGENESIS OF 104-LYS--ARG-106.
  7. "Overexpression of CERKL, a gene responsible for retinitis pigmentosa in humans, protects cells from apoptosis induced by oxidative stress."
    Tuson M., Garanto A., Gonzalez-Duarte R., Marfany G.
    Mol. Vis. 15:168-180(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
  8. "A missense mutation in the nuclear localization signal sequence of CERKL (p.R106S) causes autosomal recessive retinal degeneration."
    Ali M., Ramprasad V.L., Soumittra N., Mohamed M.D., Jafri H., Rashid Y., Danciger M., McKibbin M., Kumaramanickavel G., Inglehearn C.F.
    Mol. Vis. 14:1960-1964(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT RP26 SER-106.

Entry informationi

Entry nameiCERKL_HUMAN
AccessioniPrimary (citable) accession number: Q49MI3
Secondary accession number(s): B2RPL2
, B4DEY1, Q49MH9, Q49MI0, Q49MI1, Q49MI2, Q5DVJ2, Q5DVJ4, Q5DVJ5, Q6UZF6, Q6ZP59
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 20, 2005
Last sequence update: September 13, 2005
Last modified: July 22, 2015
This is version 93 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.